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Variant : CV330559 (NM_001165960.1(ALOXE3):c.2160C>T (p.His720=)) Homo sapiens

Symbol: CV330559
Name: NM_001165960.1(ALOXE3):c.2160C>T (p.His720=)
Condition: Congenital ichthyosiform erythroderma [RCV000396044]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ALOXE3  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_021628.2:c.1764C>T
NM_001165960.1:c.2160C>T
NG_015807.1:g.19781C>T
NC_000017.11:g.8104136G>A
NC_000017.10:g.8007454G>A
NP_067641.2:p.His588=
NP_001159432.1:p.His720=
NM_001369446.1:c.1761C>T
NP_001356375.1:p.His587=
Position
Human AssemblyChrPosition (strand)Source
GRCh38178,104,136 - 8,104,136CLINVAR
GRCh37178,007,454 - 8,007,454CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Congenital ichthyosis



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11625200
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.